Manuèle Miné

Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein

Apolline Imbard, Audrey Boutron, Christiane Vequaud et al. · Molecular Genetics and Metabolism · 2011 · 93 citations

Life Sciences, Biochemistry, Molecular Biology +11

A large genomic deletion in thePDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element

Manuèle Miné, Jian‐Min Chen, M. Brivet et al. · Human Mutation · 2006 · 79 citations

Life Sciences, Genetics, Molecular Genetics +13

The SR Protein SC35 Is Responsible for Aberrant Splicing of the E1α Pyruvate Dehydrogenase mRNA in a Case of Mental Retardation with Lactic Acidosis

Mathieu Gabut, Manuèle Miné, Cécile Marsac et al. · Molecular and Cellular Biology · 2005 · 62 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Activating NOTCH3 mutation in a patient with small-vessel-disease of the Brain

Charles Fouillade, Hugues Chabriat, Florence Riant et al. · Human Mutation · 2008 · 59 citations · Full text

Life Sciences, Genetics, Neurology +16

Mutation Ala¹⁷¹Thr Stabilizes the Gonadotropin-Releasing Hormone Receptor in Its Inactive Conformation, Causing Familial Hypogonadotropic Hypogonadism

Beate Karges, Wölfram Karges, Manuèle Miné et al. · The Journal of Clinical Endocrinology & Metabolism · 2003 · 55 citations · Full text

Life Sciences, Endocrinology, Molecular Biology +17